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Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.

Wain KE, Azzariti DR, Goldstein JL, Johnson AK, Krautscheid P, Lepore B, O'Daniel JM, Ritter D, Savatt JM, Riggs ER, Martin CL.

Genet Med. 2019 Nov 22. doi: 10.1038/s41436-019-0705-9. [Epub ahead of print]


Similarity in transgender and cisgender children's gender development.

Gülgöz S, Glazier JJ, Enright EA, Alonso DJ, Durwood LJ, Fast AA, Lowe R, Ji C, Heer J, Martin CL, Olson KR.

Proc Natl Acad Sci U S A. 2019 Dec 3;116(49):24480-24485. doi: 10.1073/pnas.1909367116. Epub 2019 Nov 18.


Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2019 Nov 6. doi: 10.1038/s41436-019-0686-8. [Epub ahead of print]


Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Oetjens MT, Kelly MA, Sturm AC, Martin CL, Ledbetter DH.

Nat Commun. 2019 Oct 25;10(1):4897. doi: 10.1038/s41467-019-12869-0.


A framework for the investigation of rare genetic disorders in neuropsychiatry.

Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE.

Nat Med. 2019 Oct;25(10):1477-1487. doi: 10.1038/s41591-019-0581-5. Epub 2019 Sep 23. Review.


Early Adolescent Gender Development: The Differential Effects of Felt Pressure from Parents, Peers, and the Self.

Cook RE, Nielson MG, Martin CL, DeLay D.

J Youth Adolesc. 2019 Oct;48(10):1912-1923. doi: 10.1007/s10964-019-01122-y. Epub 2019 Sep 13.


Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index.

Hare-Harris AE, Mitchel MW, Myers SM, Mitchel AD, King BR, Ruocco BG, Martin CL, Flax JF, Brzustowicz LM.

J Neurodev Disord. 2019 Sep 13;11(1):21. doi: 10.1186/s11689-019-9283-z.


Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT; NDD Exome Scoping Review Work Group.

Genet Med. 2019 Nov;21(11):2413-2421. doi: 10.1038/s41436-019-0554-6. Epub 2019 Jun 11.


Neighborhood disadvantage across the transition from adolescence to adulthood and risk of metabolic syndrome.

Martin CL, Kane JB, Miles GL, Aiello AE, Harris KM.

Health Place. 2019 May;57:131-138. doi: 10.1016/j.healthplace.2019.03.002. Epub 2019 Apr 28.


Maternal pre-pregnancy obesity, offspring cord blood DNA methylation, and offspring cardiometabolic health in early childhood: an epigenome-wide association study.

Martin CL, Jima D, Sharp GC, McCullough LE, Park SS, Gowdy KM, Skaar D, Cowley M, Maguire RL, Fuemmeler B, Collier D, Relton CL, Murphy SK, Hoyo C.

Epigenetics. 2019 Apr;14(4):325-340. doi: 10.1080/15592294.2019.1581594. Epub 2019 Mar 26.


Intra-articular Corticosteroid Injections for Symptomatic Knee Osteoarthritis: What the Orthopaedic Provider Needs to Know.

Martin CL, Browne JA.

J Am Acad Orthop Surg. 2019 Sep 1;27(17):e758-e766. doi: 10.5435/JAAOS-D-18-00106.


Maternal lipid levels during pregnancy and child weight status at 3 years of age.

Martin CL, Vladutiu CJ, Zikry TM, Grace MR, Siega-Riz AM.

Pediatr Obes. 2019 Apr;14(4):e12485. doi: 10.1111/ijpo.12485. Epub 2018 Dec 4.


Dyadic Peer Interactions: the Impact of Aggression on Impression Formation with New Peers.

Andrews NCZ, Hanish LD, Updegraff KA, DeLay D, Martin CL.

J Abnorm Child Psychol. 2019 May;47(5):839-850. doi: 10.1007/s10802-018-0490-y.


Recording of Diabetes on Death Certificates of Decedents With Type 1 Diabetes in DCCT/EDIC.

McEwen LN, Lee PG, Backlund JC, Martin CL, Herman WH.

Diabetes Care. 2018 Dec;41(12):e158-e160. doi: 10.2337/dc18-1704. Epub 2018 Oct 16. No abstract available.


ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.

Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS.

Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645.


Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.

Webber EM, Hunter JE, Biesecker LG, Buchanan AH, Clarke EV, Currey E, Dagan-Rosenfeld O, Lee K, Lindor NM, Martin CL, Milosavljevic A, Mittendorf KF, Muessig KR, O'Daniel JM, Patel RY, Ramos EM, Rego S, Slavotinek AM, Sobriera NLM, Weaver MA, Williams MS, Evans JP, Goddard KAB; ClinGen Resource.

Hum Mutat. 2018 Nov;39(11):1677-1685. doi: 10.1002/humu.23631.


The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.

Wain KE, Palen E, Savatt JM, Shuman D, Finucane B, Seeley A, Challman TD, Myers SM, Martin CL.

Hum Mutat. 2018 Nov;39(11):1660-1667. doi: 10.1002/humu.23607.


ClinGen's GenomeConnect registry enables patient-centered data sharing.

Savatt JM, Azzariti DR, Faucett WA, Harrison S, Hart J, Kattman B, Landrum MJ, Ledbetter DH, Miller VR, Palen E, Rehm HL, Rhode J, Turner S, Vidal JA, Wain KE, Riggs ER, Martin CL.

Hum Mutat. 2018 Nov;39(11):1668-1676. doi: 10.1002/humu.23633.


Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.

Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey EL, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos EM, Plon SE, Berg JS.

Genet Med. 2019 Apr;21(4):987-993. doi: 10.1038/s41436-018-0267-2. Epub 2018 Sep 5.


Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.

Riggs ER, Nelson T, Merz A, Ackley T, Bunke B, Collins CD, Collinson MN, Fan YS, Goodenberger ML, Golden DM, Haglund-Hazy L, Krgovic D, Lamb AN, Lewis Z, Li G, Liu Y, Meck J, Neufeld-Kaiser W, Runke CK, Sanmann JN, Stavropoulos DJ, Strong E, Su M, Tayeh MK, Kokalj Vokac N, Thorland EC, Andersen E, Martin CL.

Hum Mutat. 2018 Nov;39(11):1650-1659. doi: 10.1002/humu.23610.


Nonadherence to daily self-weighing and activity tracking is associated with weight fluctuations among African American breast cancer survivors.

Martin CL, Tate DF, Valle CG.

PLoS One. 2018 Jun 26;13(6):e0199751. doi: 10.1371/journal.pone.0199751. eCollection 2018.


Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT; ACMG Professional Practice and Guidelines Committee.

Genet Med. 2018 Oct;20(10):1105-1113. doi: 10.1038/s41436-018-0040-6. Epub 2018 Jun 18. Review.


Development of a consent resource for genomic data sharing in the clinical setting.

Riggs ER, Azzariti DR, Niehaus A, Goehringer SR, Ramos EM, Rodriguez LL, Knoppers B, Rehm HL, Martin CL; Clinical Genome Resource Education Working Group.

Genet Med. 2019 Jan;21(1):81-88. doi: 10.1038/s41436-018-0017-5. Epub 2018 Jun 13.


Gender integration in coeducational classrooms: Advancing educational research and practice.

Fabes RA, Martin CL, Hanish LD, DeLay D.

Sch Psychol Q. 2018 Jun;33(2):182-190. doi: 10.1037/spq0000266. Review.


Association Between Immigration History and Inflammatory Marker Profiles Among Older Adult Mexican Americans.

Martin CL, Haan MN, Fernandez-Rhodes L, Lee A, Aiello AE.

Biodemography Soc Biol. 2018 Jan-Mar;64(1):30-42. doi: 10.1080/19485565.2018.1449631. Erratum in: Biodemography Soc Biol. 2018 Apr-Jun;64(2):171.


Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience.

Williams MS, Buchanan AH, Davis FD, Faucett WA, Hallquist MLG, Leader JB, Martin CL, McCormick CZ, Meyer MN, Murray MF, Rahm AK, Schwartz MLB, Sturm AC, Wagner JK, Williams JL, Willard HF, Ledbetter DH.

Health Aff (Millwood). 2018 May;37(5):757-764. doi: 10.1377/hlthaff.2017.1557. Review.


What matters most - what parents model or what parents eat?

Vaughn AE, Martin CL, Ward DS.

Appetite. 2018 Jul 1;126:102-107. doi: 10.1016/j.appet.2018.03.025. Epub 2018 Mar 28.


Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.

Azzariti DR, Riggs ER, Niehaus A, Rodriguez LL, Ramos EM, Kattman B, Landrum MJ, Martin CL, Rehm HL.

Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1). pii: a002345. doi: 10.1101/mcs.a002345. Print 2018 Feb.


Kindergarten School Engagement: Linking Early Temperament and Academic Achievement at the Transition to School.

Bryce CI, Goble P, Swanson J, Fabes RA, Hanish LD, Martin CL.

Early Educ Dev. 2018;29(5):780-796. doi: 10.1080/10409289.2017.1404275. Epub 2017 Nov 27.


Trajectories of Italian Children's Peer Rejection: Associations with Aggression, Prosocial Behavior, Physical Attractiveness, and Adolescent Adjustment.

Di Giunta L, Pastorelli C, Thartori E, Bombi AS, Baumgartner E, Fabes RA, Martin CL, Enders CK.

J Abnorm Child Psychol. 2018 Jul;46(5):1021-1035. doi: 10.1007/s10802-017-0373-7.


Aetiological, Histopathological, Clinical, Diagnostic and Therapeutical Features of Idiopathic Cervical Resorption.

Gijón VR, Martín CL, Encinas RMP, Navajas JM.

Dent Update. 2016 Dec;43(10):964-6, 968-70. Review.


Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities.

Rocha HM, Savatt JM, Riggs ER, Wagner JK, Faucett WA, Martin CL.

J Genet Couns. 2018 Apr;27(2):470-480. doi: 10.1007/s10897-017-0170-z. Epub 2017 Nov 13.


ClinVar Is a Critical Resource to Advance Variant Interpretation.

Rehm HL, Harrison SM, Martin CL.

Oncologist. 2017 Dec;22(12):1562. doi: 10.1634/theoncologist.2017-0246. Epub 2017 Aug 29. No abstract available.


Acculturation Influences Postpartum Eating, Activity, and Weight Retention in Low-Income Hispanic Women.

Martin CL, Tate DF, Schaffner A, Brannen A, Hatley KE, Diamond M, Munoz-Christian K, Pomeroy J, Sanchez T, Mercado A, Hagobian T, Phelan S.

J Womens Health (Larchmt). 2017 Dec;26(12):1333-1339. doi: 10.1089/jwh.2016.6154. Epub 2017 Aug 17.


Prevalence of and Risk Factors for Diabetic Peripheral Neuropathy in Youth With Type 1 and Type 2 Diabetes: SEARCH for Diabetes in Youth Study.

Jaiswal M, Divers J, Dabelea D, Isom S, Bell RA, Martin CL, Pettitt DJ, Saydah S, Pihoker C, Standiford DA, Dolan LM, Marcovina S, Linder B, Liese AD, Pop-Busui R, Feldman EL.

Diabetes Care. 2017 Sep;40(9):1226-1232. doi: 10.2337/dc17-0179. Epub 2017 Jul 3.


Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.

Martin CL, Ledbetter DH.

JAMA. 2017 Jun 27;317(24):2545-2546. doi: 10.1001/jama.2017.7272. No abstract available.


Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS.

Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25.


CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG.

Genet Med. 2017 May;19(5):606. doi: 10.1038/gim.2017.18. No abstract available.


Adenovirus-vectored novel African Swine Fever Virus antigens elicit robust immune responses in swine.

Lokhandwala S, Waghela SD, Bray J, Sangewar N, Charendoff C, Martin CL, Hassan WS, Koynarski T, Gabbert L, Burrage TG, Brake D, Neilan J, Mwangi W.

PLoS One. 2017 May 8;12(5):e0177007. doi: 10.1371/journal.pone.0177007. eCollection 2017.


Response to Biesecker.

Miller DT, Martin CL.

Genet Med. 2017 May;19(5):605. doi: 10.1038/gim.2017.25. Epub 2017 Apr 13. No abstract available.


The efficacy of a relationship building intervention in 5th grade.

Miller CF, Kochel KP, Wheeler LA, Updegraff KA, Fabes RA, Martin CL, Hanish LD.

J Sch Psychol. 2017 Apr;61:75-88. doi: 10.1016/j.jsp.2017.01.002. Epub 2017 Feb 7.


17q12 Recurrent Deletion Syndrome.

Mitchel MW, Moreno-De-Luca D, Myers SM, Finucane B, Ledbetter DH, Martin CL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2016 Dec 8.


Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.

Finucane B, Lincoln S, Bailey L, Martin CL.

Prenat Diagn. 2017 Jan;37(1):37-42. doi: 10.1002/pd.4963. Epub 2016 Nov 29.


Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT.

Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. Erratum in: Genet Med. 2017 Apr;19(4):484.


Assessing the Impact of Homophobic Name Calling on Early Adolescent Mental Health: A Longitudinal Social Network Analysis of Competing Peer Influence Effects.

DeLay D, Hanish LD, Zhang L, Martin CL.

J Youth Adolesc. 2017 May;46(5):955-969. doi: 10.1007/s10964-016-0598-8. Epub 2016 Nov 8.


The BRAIN Initiative: Building, Strengthening, and Sustaining.

Martin CL, Chun M.

Neuron. 2016 Nov 2;92(3):570-573. doi: 10.1016/j.neuron.2016.10.039.


Maternal Dietary Patterns during Pregnancy Are Associated with Child Growth in the First 3 Years of Life.

Martin CL, Siega-Riz AM, Sotres-Alvarez D, Robinson WR, Daniels JL, Perrin EM, Stuebe AM.

J Nutr. 2016 Nov;146(11):2281-2288. Epub 2016 Sep 28.


Development of Expectancies About Own- and Other-Gender Group Interactions and Their School-Related Consequences.

Andrews NC, Martin CL, Field RD, Cook RE, Lee J.

Child Dev. 2016 Sep;87(5):1423-35. doi: 10.1111/cdev.12596.


Induction of Robust Immune Responses in Swine by Using a Cocktail of Adenovirus-Vectored African Swine Fever Virus Antigens.

Lokhandwala S, Waghela SD, Bray J, Martin CL, Sangewar N, Charendoff C, Shetti R, Ashley C, Chen CH, Berghman LR, Mwangi D, Dominowski PJ, Foss DL, Rai S, Vora S, Gabbert L, Burrage TG, Brake D, Neilan J, Mwangi W.

Clin Vaccine Immunol. 2016 Nov 4;23(11):888-900. Print 2016 Nov.

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